1/27. A DIDMOAD syndrome family with juvenile glaucoma and myopia findings.We present here two DIDMOAD syndrome cases (diabetes mellitus, diabetes insipidus, optic atrophy, deafness) in a Turkish family. In the examination of the propositus who had consanguineous parents, diabetes mellitus, diabetes insipidus, optic atrophy, and deafness were observed in addition to myopia, juvenile glaucoma, posterior polar cataract, and dilatation of the urinary tract. diabetes mellitus, diabetes inspidus, optic atrophy, deafness, myopia, and ventricular septal defect were observed in his elder brother. Juvenile onset diabetes mellitus, congenital glaucoma, deafness, and heart disease were the other remarkable findings observed in relatives to this family. Juvenile glaucoma, posterior polar cataract observed in our propositus, and myopia in both our DIDMOAD syndrome cases are the first ophthalmic manifestations described in the DIDMOAD syndrome.- - - - - - - - - - ranking = 1keywords = coma (Clic here for more details about this article) |
2/27. The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.In this study, a second case of hyperinsulinemic hypoglycemia due to activation of glucokinase is reported. The 14-year-old proband had a history of neonatal hypoglycemia, treated with diazoxide. He was admitted with coma and convulsions due to nonketotic hypoglycemia. His BMI was 34 kg/m(2), and his fasting blood glucose ranged from 2.1 to 2.7 mmol/l, associated with inappropriately high serum levels of insulin, c-peptide, and proinsulin. An oral glucose tolerance test (OGTT) showed exaggerated responses of these peptides followed by profound hypoglycemia. Treatment with diazoxide and chlorothiazide was effective. His mother never had clinical hypoglycemic symptoms, even though her fasting blood glucose ranged from 2.9 to 3.5 mmol/l. Increases in serum insulin, c-peptide, and proinsulin in response to an OGTT suggested a lower threshold for glucose-stimulated insulin release (GSIR). Screening for mutations in candidate genes revealed a heterozygous glucokinase mutation in exon 10, substituting valine for alanine at codon 456 (A456V) in the proband and his mother. The purified recombinant glutathionyl S-transferase fusion protein of the A456V glucokinase revealed a decreased glucose S(0.5) (the concentration of glucose needed to achieve the half-maximal rate of phosphorylation) from 8.04 (wild-type) to 2.53 mmol/l. The mutant's Hill coefficient was decreased, and its maximal specific activity k(cat) was increased. Mathematical modeling predicted a markedly lowered GSIR threshold of 1.5 mmol/l. The theoretical and practical implications are manifold and significant.- - - - - - - - - - ranking = 0.14285714285714keywords = coma (Clic here for more details about this article) |
3/27. Cushing's syndrome manifesting as pseudo-central hypothyroidism and hyperosmolar diabetic coma.OBJECTIVE: To report an unusual case of Cushing's syndrome caused by an adrenal pheochromocytoma, manifesting as pseudo-central hypothyroidism and diabetic hyperosmolar coma. methods: A detailed case report is presented, including clinical, laboratory, and radiologic findings as well as results of selective adrenal vein sampling. RESULTS: In a 69-year-old woman with weight gain and hypothyroidism, diabetes mellitus with hyperosmolar coma developed precipitously. She had mild hypertension, but no diabetes was noted 2 weeks before the hyperosmolar event. Evaluation revealed Cushing's syndrome due to ectopic secretion of adrenocorticotropic hormone from an adrenal pheochromocytoma. After surgical resection of the tumor, the diabetes and the hypertension resolved. Furthermore, the pseudo-central hypothyroidism was eliminated, but primary hypothyroidism was unmasked. This combination has not been reported previously. CONCLUSION: This case illustrates the array of endocrinopathies that can be associated with pheochromocytoma, causing Cushing's syndrome.- - - - - - - - - - ranking = 0.85714285714286keywords = coma (Clic here for more details about this article) |
4/27. Postoperative hypoglycaemic coma associated with chlorpropamide.A 72-year-old male being treated with chlorpropamide for diabetes mellitus had an emergency operation for a perforated gastric ulcer. Hypoglycaemic coma occurred after the operation.- - - - - - - - - - ranking = 0.71428571428571keywords = coma (Clic here for more details about this article) |
5/27. Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?We report on two sibs (of 4) with a syndrome of minor facial anomalies, proportionate IUGR, neonatal non-autoimmune diabetes mellitus (NDM), severe congenital hypothyroidism (CH), cholestasis, congenital glaucoma, and polycystic kidneys. liver disease progressed to hepatic fibrosis. The renal disease was characterized by large kidneys and multiple small cysts with deficient corticomedullary junction differentiation and normal kidney function. The phenotype observed in the two sibs was identical. Although a combination of liver, kidney, and pancreatic involvement has been described in Ivemark syndrome (hepato-renal-pancreatic syndrome), the coexistence of NDM, CH, and glaucoma in both sibs suggests the possibility that this combination of manifestations describes a new autosomal recessive syndrome. mutation analysis for several candidate genes is warranted.- - - - - - - - - - ranking = 0.85714285714286keywords = coma (Clic here for more details about this article) |
6/27. Preventing and managing visual disability in primary care: clinical applications.Clinicians in primary care settings are well positioned to participate in the prevention and management of visual disability. They can have a significant impact on their patients' visual health by screening for vision problems, aggressively controlling known risk factors for visual loss, ensuring adherence to ophthalmologic treatment and continuity of eye care, and by timely referral of specific patient populations to qualified eye care professionals (eg, ophthalmologists and optometrists). Using their knowledge about common ophthalmic medications, clinicians can detect adverse effects of these agents, including exacerbations of heart or lung disease. They can ensure that appropriate patients are screened for common serious eye diseases, such as glaucoma, and that patients with disabilities related to vision problems are assessed for treatable conditions, such as cataracts or refractive error. Finally, clinicians can direct patients with low vision from any cause to resources designed to help enhance patient function and emotional support.- - - - - - - - - - ranking = 0.14285714285714keywords = coma (Clic here for more details about this article) |
7/27. Hypoglycemic encephalopathy with extensive lesions in the cerebral white matter.Here we report an autopsy case of hypoglycemic encephalopathy with prolonged coma. Laboratory data obtained when the patient lapsed into a coma showed that she had a low level of serum glucose (27 mg/dL). Although the level of glucose returned to within the normal range rapidly after glucose infusion, the patient remained in a coma for 22 months. It was presumed that the state of hypoglycemia persisted for about 4 h. There was no evidence of hypotension or hypoxia. magnetic resonance imaging was performed 3 h after glucose administration; diffusion-weighted images revealed hyperintensity in the cerebral white matter and in the boundary zone between the middle and posterior cerebral arteries. Post-mortem examination revealed superficial laminar necrosis throughout the cerebral cortex. Neuronal necrosis was also found in the hippocampus and dentate gyrus, although the CA3 region appeared normal. In addition to these lesions, which are consistent with hypoglycemia-induced brain damage, the cerebral white matter exhibited severe loss of myelin and axons with reactive astrocytosis and macrophage infiltration. Old infarcts were also present in the bilateral occipital lobes. Since the cerebral blood flow is reported to be decreased during severe hypoglycemia, the present findings suggest that white matter lesions and boundary-zone infarctions may develop primarily in uncomplicated hypoglycemia.- - - - - - - - - - ranking = 0.42857142857143keywords = coma (Clic here for more details about this article) |
8/27. aniridia, cataracts, and Wilms' tumor in monozygous twins.We studied the first instance of aniridia-Wilms' tumor syndrome in twins who were mentally retarded. Both of them had congenital aniridia, cataracts, and glaucoma; only one subsequently developed a Wilms' tumor. A two-allele, two-step mutation is the most likely explanation of this genetically abnormal syndrome in twins. The aniridia-Wilms' tumor syndrome in twins further documents the relationship of teratogenic malformations and neoplasias.- - - - - - - - - - ranking = 0.14285714285714keywords = coma (Clic here for more details about this article) |
9/27. Kaposi's sarcoma: a light and electron microscopic study.A patient with diabetes mellitus who developed the typical classic lesions of Kaposi's sarcoma is described. Our patient presented with a reddish-purple papulonodular lesion on the right foot of five months' duration. A skin biopsy specimen showed a proliferation of spindle cells forming numerous vascular slits and a diffuse extravasation of erythrocytes. The patient's sera was negative for human immunodeficiency virus (hiv) antibodies and cytomegalovirus (CMV) antibodies. Ultrastructural examination demonstrated fibroblast-like spindle cells phagocytosing and digesting red blood cells to form vascular spaces. The patient died, due to gastrointestinal hemorrhage, and the autopsy revealed an extensive visceral involvement of Kaposi's sarcoma.- - - - - - - - - - ranking = 0.85714285714286keywords = coma (Clic here for more details about this article) |
10/27. cerebrospinal fluid lactate in patients with diabetes mellitus and hypoglycaemic coma.cerebrospinal fluid (CSF) lactate and pyruvate concentrations were determined in 20 patients with diabetes mellitus but without disturbance of consciousness and five who recovered from hypoglycaemic coma. CSF lactate was slightly but significantly higher in diabetes mellitus (1.78, SEM 0.04 m mol/l) than that in 15 control subjects (1.40, SEM 0.05 m mol/l). In those who recovered from hypoglycaemic coma, CSF lactate was markedly elevated to 2.45-4.43 m mol/l. CSF glucose concentrations, however, were substantially the same between treated hypoglycaemic and diabetes mellitus groups. These findings indicate that CSF lactate levels increase with glycaemic levels in diabetes mellitus owing to enhanced glucose influx into glycolytic pathway of the brain, and also increases in treated hypoglycaemic coma probably due to mitochondrial dysfunction or damage.- - - - - - - - - - ranking = 1keywords = coma (Clic here for more details about this article) |
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